|
|
|
|
| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_011988 | Polymorphism | p.ALA58VAL | N/A | Swiss-Prot | VAR_011989 | Polymorphism | p.GLU168LYS | N/A | dbSNP | rs17292650 | Polymorphism | p.LYS39ASN | N/A | Swiss-Prot | VAR_067559 | Disease | p.SER505ASN | Thrombocythemia 2 (THCYT2) | Swiss-Prot | VAR_067561 | Disease | p.TRP515LEU | Thrombocythemia 2 (THCYT2) | Swiss-Prot | VAR_067560 | Disease | p.TRP515LYS | Myelofibrosis with myeloid metaplasia (MMM) | dbSNP | rs12731981 | Polymorphism | p.VAL114MET | N/A | OMIM | 159530.0003 | Disease | p.ARG257CYS | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL | OMIM | 159530.0005 | Disease | p.ARG102PRO | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL | OMIM | 159530.0001 | Disease | p.GLN186TER | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL | OMIM | 159530.0009 | Disease | p.LYS39ASN | THROMBOCYTHEMIA 2, SUSCEPTIBILITY TO | OMIM | 159530.0004 | Disease | p.PRO635LEU | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL | OMIM | 159530.0008 | Disease | p.PRO275THR | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL | OMIM | 159530.0010 | Disease | p.SER505ASN | THROMBOCYTHEMIA 2 | OMIM | 159530.0011 | Disease | p.TRP515LEU | MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC||THROMBOCYTHEMIA 2, SOMATIC, INCLUDED | OMIM | 159530.0012 | Disease | p.TRP515LYS | MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC | OMIM | 159530.0006 | Disease | p.TRP491TER | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|